Locus Specific Mutation Databases

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116 entries on 2 pages. Showing entries 1 - 100.
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AscendingSymbol     

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
QARS BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QARS
Admin
BRAINN
- - LOVD 3.X 2017-10-26
QARS Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QARS
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2016-12-16
QARS BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QARS
Admin
BRAINN
- - LOVD 3.X 2018-11-12
QARS BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/QARS
Admin
BRAINN
- - LOVD 3.X 2018-11-15
QARS LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/QARS
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-17
QARS BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/QARS
Admin
BRAINN
- - LOVD 3.X 2018-12-07
QARS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QARS1[gene]

- - ClinVar 2019-07-22
QDPR BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/QDPR
Admin
BRAINN
- - LOVD 3.X 2018-11-21
QDPR BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QDPR
Admin
BRAINN
- - LOVD 3.X 2017-10-26
QDPR BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/QDPR
Admin
BRAINN
- - LOVD 3.X 2018-11-21
QDPR ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QDPR[gene]

- - ClinVar 2019-09-02
QDPR Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QDPR
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
QDPR BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QDPR
Admin
BRAINN
- - LOVD 3.X 2018-10-16
QDPR Quinoid Dihydropteridinereductase deficiency- BIOMED database
http://www.bh4.org/
Nenad Blaul, ZurichJ.L. Dhont, I. Dianzani
University Children's Hospital Heidelberg, Germany
Faculté libre de Médicine, Lille, France
Univ.Torino, Torino, Italy
- - Other Unknown
QDPR LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/QDPR
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-15
QKI BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QKI
Admin
BRAINN
- - LOVD 3.X 2017-10-26
QKI BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/QKI
Admin
BRAINN
- - LOVD 3.X 2018-11-28
QKI ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QKI[gene]

- - ClinVar 2019-06-03
QKI BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/QKI
Admin
BRAINN
- - LOVD 3.X 2018-10-16
QKI BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QKI
Admin
BRAINN
- - LOVD 3.X 2018-10-09
QKI Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QKI
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2017-04-11
QPCT BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QPCT
Admin
BRAINN
- - LOVD 3.X 2017-10-26
QPCT ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QPCT[gene]

- - ClinVar 2019-03-05
QPCT BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/QPCT
Admin
BRAINN
- - LOVD 3.X 2018-10-09
QPCT LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/QPCT
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
QPCT BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QPCT
Admin
BRAINN
- - LOVD 3.X 2018-10-05
QPCT BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/QPCT
Admin
BRAINN
- - LOVD 3.X 2018-11-10
QPCT Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QPCT
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2019-07-12
QPCTL BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QPCTL
Admin
BRAINN
- - LOVD 3.X 2017-10-26
QPCTL ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QPCTL[gene]

- - ClinVar 2019-03-05
QPCTL BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QPCTL
Admin
BRAINN
- - LOVD 3.X 2018-11-16
QPCTL BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/QPCTL
Admin
BRAINN
- - LOVD 3.X 2018-12-12
QPCTL Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QPCTL
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
QPCTL LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/QPCTL
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
QPCTL Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/QPCTL
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
QPCTL BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/QPCTL
Admin
BRAINN
- - LOVD 3.X 2019-01-14
QPRT BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QPRT
Admin
BRAINN
- - LOVD 3.X 2017-10-26
QPRT ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QPRT[gene]

- - ClinVar 2019-08-05
QPRT BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/QPRT
Admin
BRAINN
- - LOVD 3.X 2019-01-02
QPRT Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QPRT
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
QPRT BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QPRT
Admin
BRAINN
- - LOVD 3.X 2018-10-04
QPRT BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/QPRT
Admin
BRAINN
- - LOVD 3.X 2018-10-08
QPRT LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/QPRT
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
QPRT Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/QPRT
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
QRFP LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/QRFP
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
QRFP BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QRFP
Admin
BRAINN
- - LOVD 3.X 2017-10-26
QRFP ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QRFP[gene]

- - ClinVar 2019-05-03
QRFP BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QRFP
Admin
BRAINN
- - LOVD 3.X 2018-11-21
QRFP BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/QRFP
Admin
BRAINN
- - LOVD 3.X 2018-12-15
QRFP Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QRFP
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
QRFP BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/QRFP
Admin
BRAINN
- - LOVD 3.X 2018-12-08
QRFPR BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/QRFPR
Admin
BRAINN
- - LOVD 3.X 2018-11-22
QRFPR BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QRFPR
Admin
BRAINN
- - LOVD 3.X 2017-10-26
QRFPR ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QRFPR[gene]

- - ClinVar 2019-08-05
QRFPR BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QRFPR
Admin
BRAINN
- - LOVD 3.X 2018-10-07
QRFPR Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QRFPR
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
QRFPR BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/QRFPR
Admin
BRAINN
- - LOVD 3.X 2018-10-14
QRFPR NDDVD - Neurodegenerative Diseases Variation Database
http://bioinf.suda.edu.cn/NDDvarbase/LOVDv.3.0/genes/QRFPR
XY Liu
SUDA
- - LOVD 3.X 2017-12-14
QRFPR LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/QRFPR
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-17
QRFPR Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/QRFPR
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
QRICH1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QRICH1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
QRICH1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QRICH1[gene]

- - ClinVar 2019-05-03
QRICH1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QRICH1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
QRICH1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QRICH1
Admin
BRAINN
- - LOVD 3.X 2018-11-12
QRICH1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/QRICH1
Admin
BRAINN
- - LOVD 3.X 2018-11-15
QRICH1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/QRICH1
Admin
BRAINN
- - LOVD 3.X 2018-12-07
QRICH1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/QRICH1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-17
QRICH2 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/QRICH2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
QRICH2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QRICH2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
QRICH2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QRICH2[gene]

- - ClinVar 2019-05-03
QRICH2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QRICH2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
QRICH2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/QRICH2
Admin
BRAINN
- - LOVD 3.X 2019-01-08
QRICH2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/QRICH2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
QRICH2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/QRICH2
Admin
BRAINN
- - LOVD 3.X 2018-11-13
QRICH2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QRICH2
Admin
BRAINN
- - LOVD 3.X 2018-10-12
QRSL1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QRSL1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
QRSL1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QRSL1[gene]

- - ClinVar 2019-03-05
QRSL1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/QRSL1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-08-02
QRSL1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/QRSL1
Admin
BRAINN
- - LOVD 3.X 2018-10-16
QRSL1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QRSL1
Admin
BRAINN
- - LOVD 3.X 2018-10-08
QRSL1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/QRSL1
Admin
BRAINN
- - LOVD 3.X 2018-11-26
QRSL1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QRSL1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2017-11-10
QSER1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QSER1
Admin
BRAINN
- - LOVD 3.X 2018-11-18
QSER1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/QSER1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
QSER1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QSER1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
QSER1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QSER1[gene]

- - ClinVar 2019-03-05
QSER1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QSER1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
QSER1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/QSER1
Admin
BRAINN
- - LOVD 3.X 2018-12-12
QSER1 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/QSER1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-12
QSER1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/QSER1
Admin
BRAINN
- - LOVD 3.X 2018-12-08
QSOX1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QSOX1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
QSOX1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QSOX1
Admin
BRAINN
- - LOVD 3.X 2018-09-30
QSOX1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/QSOX1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
QSOX1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QSOX1[gene]

- - ClinVar 2019-07-01
QSOX1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/QSOX1
Admin
BRAINN
- - LOVD 3.X 2018-10-03
QSOX1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QSOX1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
QSOX1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/QSOX1
Admin
BRAINN
- - LOVD 3.X 2018-10-21
QSOX2 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/QSOX2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
QSOX2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/QSOX2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
QSOX2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QSOX2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
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